Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215175 | SCV001386905 | likely benign | Kabuki syndrome | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285458 | SCV002575255 | uncertain significance | not provided | 2022-09-12 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31925297) |